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Titolo:
Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation
Autore:
Bostantjopoulou, S; Katsarou, Z; Papadimitriou, A; Veletza, V; Hatzigeorgiou, G; Lees, A;
Indirizzi:
G Papanikolaou Hosp, Univ Dept Neurol 3, Thessaloniki, Greece G Papanikolaou Hosp Thessaloniki Greece Neurol 3, Thessaloniki, Greece Univ Dept Neurol, Larisa, Greece Univ Dept Neurol Larisa GreeceUniv Dept Neurol, Larisa, Greece Reta Lila Weston Inst Neurol Studies, London, England Reta Lila Weston Inst Neurol Studies London England es, London, England
Titolo Testata:
MOVEMENT DISORDERS
fascicolo: 6, volume: 16, anno: 2001,
pagine: 1007 - 1013
SICI:
0885-3185(200111)16:6<1007:CFOPPW>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALA53THR MUTATION; YOUNG-ONSET; CHINESE POPULATION; AUTOSOMAL-DOMINANT; COGNITIVE CHANGES; GENETIC-ANALYSIS; DISEASE; FAMILIES; ABSENCE; DIAGNOSIS;
Keywords:
familial parkinsonism; alpha-synuclein; G209A mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
49
Recensione:
Indirizzi per estratti:
Indirizzo: Bostantjopoulou, S 9 Navarinou Sq, GR-54622 Thessaloniki, Greece 9 Navarinou Sq Thessaloniki Greece GR-54622 i, Greece
Citazione:
S. Bostantjopoulou et al., "Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation", MOVEMENT D, 16(6), 2001, pp. 1007-1013

Abstract

The motor and neuropsychological abnormalities in eight Greek patients with Parkinson's disease (PD) carrying the alpha -synuclein gene mutation (G209A) were studied. These patients (five men, three women) belonged to six different families. Their symptoms started between 32-50 years of age (mean +/- SD, 39.7 +/- 7.6 years) and they had a mean disease duration of 5.4 +/- 2.1 years (range, 2-9 years) at the time of examination. Rigidity and bradykinesia predominated both at disease onset as well as in the later stages and rest tremor was relatively uncommon. Neuropsychological assessment showed that one patient was mildly demented while another had impairment in memory, visuoconstructive abilities, and executive function. Depression was present in only one patient. Our findings indicate that genetic forms of parkinsonism share common motor and cognitive characteristics with sporadic PD but raise the possibility that greater cognitive impairment and the relativerarity of tremor may be distinctive features worthy of further investigation. (C) 2001 Movement Disorder Society.

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Documento generato il 17/09/19 alle ore 18:18:37